ID   KR211_HUMAN             Reviewed;          79 AA.
AC   Q3LI58;
DT   21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT   08-NOV-2005, sequence version 1.
DT   03-AUG-2022, entry version 96.
DE   RecName: Full=Keratin-associated protein 21-1;
GN   Name=KRTAP21-1; Synonyms=KAP21.1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Hair root;
RA   Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.;
RT   "Identification of complete keratin-associated protein (KAP) gene cluster
RT   spanning 800 kb region on human chromosome 21q22.11.";
RL   Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   VARIANT [LARGE SCALE ANALYSIS] SER-15.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC       embedded in an interfilamentous matrix, consisting of hair keratin-
CC       associated proteins (KRTAP), which are essential for the formation of a
CC       rigid and resistant hair shaft through their extensive disulfide bond
CC       cross-linking with abundant cysteine residues of hair keratins. The
CC       matrix proteins include the high-sulfur and high-glycine-tyrosine
CC       keratins.
CC   -!- SUBUNIT: Interacts with hair keratins. {ECO:0000250}.
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DR   EMBL; AB096960; BAE46375.1; -; mRNA.
DR   EMBL; BC105029; AAI05030.1; -; mRNA.
DR   EMBL; BC105031; AAI05032.1; -; mRNA.
DR   CCDS; CCDS13606.1; -.
DR   RefSeq; NP_853650.1; NM_181619.1.
DR   AlphaFoldDB; Q3LI58; -.
DR   STRING; 9606.ENSP00000335566; -.
DR   BioMuta; KRTAP21-1; -.
DR   PaxDb; Q3LI58; -.
DR   PRIDE; Q3LI58; -.
DR   DNASU; 337977; -.
DR   Ensembl; ENST00000335093.5; ENSP00000335566.3; ENSG00000187005.5.
DR   GeneID; 337977; -.
DR   KEGG; hsa:337977; -.
DR   MANE-Select; ENST00000335093.5; ENSP00000335566.3; NM_181619.2; NP_853650.1.
DR   UCSC; uc011adi.3; human.
DR   CTD; 337977; -.
DR   DisGeNET; 337977; -.
DR   GeneCards; KRTAP21-1; -.
DR   HGNC; HGNC:18945; KRTAP21-1.
DR   HPA; ENSG00000187005; Not detected.
DR   neXtProt; NX_Q3LI58; -.
DR   OpenTargets; ENSG00000187005; -.
DR   PharmGKB; PA134897035; -.
DR   VEuPathDB; HostDB:ENSG00000187005; -.
DR   eggNOG; ENOG502T35A; Eukaryota.
DR   GeneTree; ENSGT01050000245284; -.
DR   HOGENOM; CLU_140099_1_0_1; -.
DR   OMA; FRRCYSC; -.
DR   PathwayCommons; Q3LI58; -.
DR   Reactome; R-HSA-6805567; Keratinization.
DR   BioGRID-ORCS; 337977; 211 hits in 986 CRISPR screens.
DR   GenomeRNAi; 337977; -.
DR   Pharos; Q3LI58; Tdark.
DR   PRO; PR:Q3LI58; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   RNAct; Q3LI58; protein.
DR   Bgee; ENSG00000187005; Expressed in skin of abdomen and 14 other tissues.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR   GO; GO:0001942; P:hair follicle development; IBA:GO_Central.
PE   3: Inferred from homology;
KW   Keratin; Reference proteome; Repeat.
FT   CHAIN           1..79
FT                   /note="Keratin-associated protein 21-1"
FT                   /id="PRO_0000223912"
FT   VARIANT         15
FT                   /note="G -> S (in a breast cancer sample; somatic mutation;
FT                   dbSNP:rs757919425)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036563"
SQ   SEQUENCE   79 AA;  7937 MW;  700E7AFC03789565 CRC64;
     MCCNYYGNSC GYGSGCGCGY GSGSGCGCGY GTGYGCGYGC GFGSHYGCGY GTGYGCGYGS
     GSGYCGYRPF CFRRCYSSC